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Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.11885994C>T , CM000674.2:g.11885994C>T
GRCh38
NC_000012.11:g.12038928C>T , CM000674.1:g.12038928C>T
GRCh37
NC_000012.10:g.11930195C>T
NCBI36
NG_011443.1:g.241141C>T , LRG_609:g.241141C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000396373.9:c.1221C>T
MANE Select
ENSP00000379658.3:p.Ile407=
ENST00000266427.3:c.58C>T
ENST00000396373.8:c.1221C>T
ENSP00000379658.3:p.Ile407=
NM_001987.4:c.1221C>T , LRG_609t1:c.1221C>T
NP_001978.1:p.Ile407=
XM_011520607.1:c.1218C>T
XP_011518909.1:p.Ile406=
XM_011520608.1:c.1194C>T
XP_011518910.1:p.Ile398=
XM_011520609.1:c.957C>T
XP_011518911.1:p.Ile319=
XM_011520610.1:c.957C>T
XP_011518912.1:p.Ile319=
XM_011520611.1:c.957C>T
XP_011518913.1:p.Ile319=
XM_011520612.1:c.600C>T
XP_011518914.1:p.Ile200=
XM_011520607.2:c.1218C>T
XP_011518909.1:p.Ile406=
XM_011520608.2:c.1194C>T
XP_011518910.1:p.Ile398=
XM_011520609.2:c.957C>T
XP_011518911.1:p.Ile319=
XM_011520611.2:c.957C>T
XP_011518913.1:p.Ile319=
XM_011520612.2:c.600C>T
XP_011518914.1:p.Ile200=
XM_017018990.1:c.1086C>T
XP_016874479.1:p.Ile362=
XM_017018991.1:c.957C>T
XP_016874480.1:p.Ile319=
NM_001987.5:c.1221C>T
MANE Select
NP_001978.1:p.Ile407=